Anomalies of the kidney and urinary tract are common in de Lange syndrome

Abstract

Sixty-one patients affected by de Lange syndrome underwent a careful renal and urological evaluation including family and personal history, physical examination, urinalysis, renal tract ultrasonography, and serum creatinine. A voiding cystourethrography was performed in patients with urinary tract infections, in patients with renal ectopy, and in patients with small kidneys. Structural anomalies of the kidney and urinary tract were detected either by ultrasound or voiding cystourethrography in 25 patients (41%): absent or poor corticomedullary differentiation (N = 8; 13%), pelvic dilation (N = 6; 10%), vesicoureteral reflux (N = 5; 8%), small kidney (N = 3; 5%), isolated renal cyst (N = 3; 5%), and renal ectopia (N = 2; 3%). Renal function was normal in 52 patients (85%) but reduced in 9 patients (15%) with renal tract abnormalities. Overt proteinuria was disclosed in three patients with impaired renal function.

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

“…The patients were then classified as having an overall “severe,“ “moderate,” or “mild” phenotype in accordance with a severity scoring system. [Selicorni et al, ; Kline et al, ].…”

“…One‐third of the patients show upper limb anomalies [Roposch et al, ] but major malformations can also involve other organs (heart, palate, kidney, and genitourinary system, gastrointestinal system); nevertheless, major malformations, except for limb defects, are not considered major diagnostic criteria [Kline et al, ]. Among medical complications, GERD is the most frequent and most disturbing medical problem of these patients [Jackson et al, ; Selicorni et al, ; Kline et al, ]. The natural history of this rare disease is quite well characterized in the childhood age, while very sparse data are available regarding adults.…”

Cornelia De Lange, Cri Du Chat, and Rubinstein-Taybi Syndromes

“…Gastrooesophageal reflux and other gastrointestinal disorders are prominent (Luzanni et al, 2003; with reports of an association between reflux and behavioural disorder including self-injury (Luzanni et al, 2003;Moss, Oliver, Hall, Sloneem, Arron & Petty, 2005). Other health problems include heart and kidney malformations in approximately 40% (Selicorni, Sforzini, Milani, Cagnoli, Fossali & Bianchetti, 2005), dental problems, otitis media Kline et al, 2007b;Marchisio et al, 2008) and opthalmic and orthopaedic disorders (Levin et al, 1990;Nallasamy et al, 2006;Roposch et al, 2004;Wygnanski-Jaffe et al, 2005). Health problems are related to low mood (Berg et al, 2007) and warrant repeated assessment with aggressive intervention.…”

Vesicoureteric reflux and renal malformations: a developmental problem

“…For example, mutations in PAX2 result in Renal-coloboma syndrome (RCS), an autosomal dominant disorder in which affected individuals have optic nerve colobomas, renal dysplasia, and VUR (57,58). Other syndromes with VUR include Branchio-oto-renal syndrome caused by mutations in EYA1 (59) or SIX1 (60), Hypoparathyroidism-deafness-renal dysplasia caused by mutations in the GATA3 transcription factor (61), and several other rare disorders (62)(63)(64)(65)(66)(67)(68)(69). A number of chromosomal abnormalities including translocations and monosomies have also been associated with VUR and kidney malformation ( Table 2).…”